Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.Q137delFs
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SMARCAL1

NM_014140.4:p.Q137delFs

Associated Papers

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Morimoto M et al.

Orphanet Journal of Rare Diseases, 2016

27816064 (PubMed )
Supplement: 13023_2016_519_MOESM1_ESM.pdf

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Morimoto M et al.

Orphanet Journal of Rare Diseases, 2012

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

Elizondo LI et al.

Journal of Medical Genetics, 2009

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing JM et al.

Human Mutation, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."